International Wilson Disease Mutation Database-国际肝豆状核变性基因突变数据库

Welcome to our Wilson Disease Mutation Database

Result(1610)

cDNA change

Protein alteration

Genomic reference

RS ID

Location

Protein area

Variation type

SIFT

PolyPhen-2

ACMG classification

Pubmed ID

c.2731-2A>G

n.a

g.51949798T>C

rs367956522

intron11

A-domain/TM5

Splicing

n.a

n.a

Likely pathogenic

9311736

c.2731-2A>T

n.a

g.51949798T>A

rs367956522

intron11

A-domain/TM5

Splicing

n.a

n.a

Pathogenic

24718822

c.2731-1G>A

n.a

g.51949797C>T

n.a

intron11

A-domain/TM5

Splicing

n.a

n.a

Pathogenic

35220961

c.2731-67A>G

n.a

g.51949863T>C

rs1957885392

intron11

A-domain/TM5

Splicing

n.a

n.a

Likely pathogenic

36343861

c.2731-3T>G

n.a

g.51949799A>C

n.a

intron11

A-domain/TM5

Splicing

n.a

n.a

Uncertain significance

36112267

c.2730G>T

p.Lys910Asn

g.51950007C>A

rs80145681

exon11

A-domain/TM5

Missense

/

Probably damaging (1.000)

Likely pathogenic

30702195

c.2730+1G>A

n.a

g.51950006C>T

rs1057516425

intron11

A-domain/TM5

Splicing

n.a

n.a

Likely pathogenic

14986826

c.2730+1G>T

n.a

g.51950006C>A

rs1057516425

intron11

A-domain/TM5

Splicing

n.a

n.a

Pathogenic

34240825

c.2728A>T

p.Lys910*

g.51950009T>A

n.a

exon11

A-domain/TM5

Nonsense

n.a

n.a

Pathogenic

15811015

c.2720A>G

p.Gln907Arg

g.51950017T>C

n.a

exon11

A-domain/TM5

Missense

/

Probably damaging (1.000)

Likely pathogenic

30230192

c.2719C>T

p.Gln907*

g.51950018G>A

rs757595812

exon11

A-domain/TM5

Nonsense

n.a

n.a

Pathogenic

36096368

c.2712_2713insT

p.Glu905*

g.51950024_51950025insA

n.a

exon11

A-domain/TM5

Frameshift

n.a

n.a

Pathogenic

29321352

c.2707G>T

p.Val903Leu

g.51950030C>A

n.a

exon11

A-domain/TM5

Missense

/

Probably damaging (0.997)

Likely pathogenic

L2004138265 (Embase)

c.2705T>C

p.Leu902Pro

g.51950032A>G

n.a

exon11

A-domain/TM5

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

35220961,L619586860 (Embase)

c.2697_2723del

p.899_907delIVKLVEEAQ

g.51950014_51950040del

n.a

exon11

A-domain/TM5

Inframe deletion

n.a

n.a

Likely pathogenic

17438596

c.2696T>C

p.Ile899Thr

g.51950041A>G

n.a

exon11

A-domain/TM5

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

35220961

c.2695A>T

p.Ile899Phe

g.51950042T>A

n.a

exon11

A-domain/TM5

Missense

/

Probably damaging (1.000)

Likely pathogenic

17949296

c.2693A>G

p.Gln898Arg

g.51950044T>C

rs1957897954

exon11

A-domain/TM5

Missense

/

Probably damaging (0.992)

Likely pathogenic

11243728

c.2692C>T

p.Gln898*

g.51950045G>A

rs1957898187

exon11

A-domain/TM5

Nonsense

n.a

n.a

Pathogenic

30655162

c.2682_2683insT

p.Thr895Tyrfs*24

g.51950054_51950055insA

n.a

exon11

A-domain/TM5

Frameshift

n.a

n.a

Pathogenic

L365167883 (Embase)

c.2681C>T

p.Thr894Ile

g.51950056G>A

rs1340729837

exon11

A-domain/TM5

Missense

/

Probably damaging (0.998)

Likely pathogenic

30232804

c.2679_2680insT

p.Thr894Tyrfs*25

g.51950057_51950058insT

n.a

exon11

A-domain/TM5

Frameshift

n.a

n.a

Pathogenic

L365167883 (Embase)

c.2673C>G

p.Gly891Gly

g.51950064G>C

rs587783305

exon11

A-domain/TM5

Silent

n.a

n.a

Likely benign

14986826

c.2672G>A

p.Gly891Asp

g.51950065C>T

rs483352684

exon11

A-domain/TM5

Missense

/

Probably damaging (0.998)

Pathogenic

17587212

c.2672G>T

p.Gly891Val

g.51950065C>A

rs483352684

exon11

A-domain/TM5

Missense

/

Probably damaging (0.998)

Likely pathogenic

8931691

c.2668G>A

p.Val890Met

g.51950069C>T

rs786204718

exon11

A-domain/TM5

Missense

Damaging (0.003)

Probably damaging (1.000)

Likely pathogenic

11216666

c.2666A>C

p.His889Pro

g.51950071T>G

rs1202275017

exon11

A-domain/TM5

Missense

Damaging (0.000)

Probably damaging (0.999)

Likely pathogenic

31059521

c.2665C>G

p.His889Asp

g.51950072G>C

n.a

exon11

A-domain/TM5

Missense

/

Probably damaging (0.992)

Likely pathogenic

30655162

c.2662A>C

p.Thr888Pro

g.51950075T>G

rs1455758826

exon11

A-domain/TM5

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

18034201

c.2662_2718del

p.888_906del

g.51950019_51950075del

n.a

exon11

A-domain/TM5

Inframe deletion

n.a

n.a

Likely pathogenic

36112267

c.2660dupC

p.Thr888Tyrfs*6

g.51950077dup

n.a

exon11

A-domain/TM5

Frameshift

n.a

n.a

Pathogenic

10790207

c.2659delG

p.Ala887Leufs*14

g.51950078del

rs1957900892

exon11

A-domain/TM5

Frameshift

n.a

n.a

Pathogenic

9452121,10453196

c.2650_2652delCTC

p.Leu884del

g.51950085_51950087del

n.a

exon11

A-domain/TM5

Inframe deletion

n.a

n.a

Likely pathogenic

10790207

c.2648_2649delTG

p.Val883Alafs*3

g.51950088_51950089del

rs1957901268

exon11

A-domain/TM5

Frameshift

n.a

n.a

Pathogenic

12885331

c.2642G>A

p.Gly881Asp

g.51950095C>T

n.a

exon11

A-domain/TM5

Missense

Damaging (0.001)

Probably damaging (0.999)

Likely pathogenic

35220961

c.2637_2650del

p.Gly881*

g.51950087_51950100del

n.a

exon11

A-domain/TM5

Frameshift

n.a

n.a

Pathogenic

34400371

c.2634T>A/G

p.Asn878Lys

g.51950103A>T/C

n.a

exon11

A-domain/TM5

Missense

/

Probably damaging (0.999)

Likely pathogenic

18483695

c.2630_2656del

p.877_885delINAHGSVLI

g.51950081_51950107del

n.a

exon11

A-domain/TM5

Inframe deletion

n.a

n.a

Likely pathogenic

12544487

c.2627C>T

p.Ser876Phe

g.51950110G>A

rs563353745

exon11

A-domain/TM5

Missense

/

Probably damaging (1.000)

Likely pathogenic

17438596

c.2623G>A

p.Gly875Arg

g.51950114C>T

rs587783304

exon11

A-domain/TM5

Missense

/

Probably damaging (1.000)

Pathogenic

11405812

c.2621C>T

p.Ala874Val

g.51950116G>A

rs121907994

exon11

A-domain/TM5

Missense

Damaging (0.004)

Probably damaging (0.999)

Pathogenic

9452121,9554743

c.2620G>C

p.Ala874Pro

g.51950117C>G

rs376355660

exon11

A-domain/TM5

Missense

Damaging (0.006)

Probably damaging (0.999)

Likely pathogenic

21219664,21796144

c.2606G>T

p.Gly869Val

g.51950131C>A

rs775553302

exon11

A-domain/TM5

Missense

/

Probably damaging (1.000)

Likely pathogenic

10502776

c.2605G>A

p.Gly869Arg

g.51950132C>T

rs191312027

exon11

A-domain/TM5

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

9311736

c.2605G>T

p.Gly869*

g.51950132C>A

rs191312027

exon11

A-domain/TM5

Nonsense

n.a

n.a

Pathogenic

8931691

c.2604delC

p.Gly869Glufs*4

g.51950133del

rs1957904411

exon11

A-domain/TM5

Frameshift

n.a

n.a

Pathogenic

16510432

c.2599A>T

p.Lys867*

g.51950138T>A

n.a

exon11

A-domain

Nonsense

n.a

n.a

Pathogenic

29321352

c.2597A>G

p.Lys866Arg

g.51950140T>C

n.a

exon11

A-domain

Missense

/

Probably damaging (0.998)

Likely pathogenic

30230192

c.2596A>T

p.Lys866*

g.51950141T>A

rs1957904690

exon11

A-domain

Nonsense

n.a

n.a

Pathogenic

31172689

c.2596A>G

p.Lys866Glu

g.51950141T>C

rs1957904690

exon11

A-domain

Missense

/

/

Pathogenic

37157876

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